EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    5.1.3.14 | Distal Myopathies |
14707127 |
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. |
ongoing research
unassigned |
1
0 |
| 5.1.3.14 | Distal Myopathies |
14733963 |
A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins. |
causal interaction
unassigned |
3
0 |
| 5.1.3.14 | Distal Myopathies |
15136692 |
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant. |
unassigned |
0 |
| 5.1.3.14 | Distal Myopathies |
15834044 |
Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy. |
causal interaction
unassigned |
4
0 |
| 5.1.3.14 | Distal Myopathies |
17098358 |
Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family. |
therapeutic application
unassigned |
1
0 |
| 5.1.3.14 | Distal Myopathies |
17164266 |
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. |
causal interaction
unassigned |
1
0 |
| 5.1.3.14 | Distal Myopathies |
17643062 |
Expression of autophagy-associated genes in skeletal muscle: an experimental model of chloroquine-induced myopathy. |
causal interaction
unassigned |
1
0 |
| 5.1.3.14 | Distal Myopathies |
17704511 |
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. |
causal interaction
unassigned |
2
0 |
| 5.1.3.14 | Distal Myopathies |
18646567 |
Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy? |
unassigned |
0 |
| 5.1.3.14 | Distal Myopathies |
19845164 |
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in nuclei and rimmed vacuoles of muscle fibers in DMRV (distal myopathy with rimmed vacuoles). |
causal interaction
therapeutic application
unassigned |
4
1
0 |
